Varaico: Literature-Extracted Genetic Variants

POLR1D

59 papers

RefSeq Summary

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Muta...

Pfam Domains

POLR1Daa 1–27UCSCPOLR1D

POLR1Daa 1–55UCSCPOLR1D

RNA_pol_L_2aa 39–113UCSCRNA polymerase Rpb3/Rpb11 dimerisation domain

Gene Aliases

HGNC Name

RNA polymerase I and III subunit D

HGNC Alias Symbols

RPAC2; RPA16; RPO1-3; RPA9; MGC9850; AC19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015972.4

p.T41A

c.121A>G

Surrounding Variants

2 papers

NM_015972.4

p.H38_E47del10

c.112_140del30

2 papers

NM_015972.4

p.R37fs

c.109_110fs

4 papers

NM_015972.4

p.R37insFs

c.109dupA

5 papers

NM_015972.4

p.E46*

c.136G>T

7 papers

NM_015972.4

p.E47K

c.139G>A

1 paper

NM_015972.4

p.D48V

c.143A>T

5 papers

NM_015972.4

p.T50I

c.149C>T

8 papers

NM_015972.4

p.Q31*

c.91C>T

4 papers

NM_015972.4

p.Q31fs

c.91_92fs

6 papers

NM_015972.4

p.L51R

c.152T>G

1 paper

NM_015972.4

p.V30insFs

c.89_90insTG

3 papers

NM_015972.4

p.Q31delFs

c.91delC